NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002350027.9
Allele description [Variation Report for NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=)]
NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=)
Condition(s)
-
weak chloroplast movement under blue light protein (DUF827) [Arabidopsis thalian...
weak chloroplast movement under blue light protein (DUF827) [Arabidopsis thaliana]gi|15221217|ref|NP_172679.1|Protein
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Last Updated: Sep 16, 2024